News from Rare Genomics Institute

The Latest News, Events and More from RG

Los Angeles, C.A., February 18th, 2018. Rare Genomics Institute (RG) is happy to give some love and support to patient advocates worldwide during this holiday weekend.

Romina Ortiz, COO and VP of Patient Advocacy was the grateful recipient of Sanofi Genzyme’s 6th annual Patient Advocacy Leadership (PAL) Awards for 2016. For this award, RG created an online training course for patient advocates in the genetics space, particularly for those working in diagnostics and serving undiagnosed rare disease patients. This course will be used to train future Patient Advocate Associates at RG. In partnership with Dr. Harsha Karur Rajasimha and his team from Organization for Rare Diseases India (ORDI), materials on two Lysosomal Storage Diseases: Niemann-Pick and Tay-Sachs were produced, as well as the translation of all material to Hindi.

The link to the eLearning course “Rare Gene Superheroes” has been sent to all those that submitted the early access form in late 2017 and has been shared across RG’s social media channels and homepage. Hereis the link to the course located in the Patient Resources section of the RG website. For more information on the Rare Gene Superheroes course, please contact romina.ortiz@raregenomics.org

About Rare Genomics Institute

Rare Genomics Institute (RG) was founded in 2011 to fill the health care gap for undiagnosed rare disease patients and supporting research in rare diseases. RG helps rare disease patients find a diagnosis, treatment, and pathway to a cure by individualized access, coordination and execution of genetic sequencing and research services with RG and its affiliates. RG also supports rare disease advocacy by fostering an online community of rare disease patients, and supporting rare disease research through a yearly grant competition. We hope that these efforts slowly push science and care forward to meet the needs of the patients affected by rare diseases.

Sanofi is a global healthcare leader in the discovery, development and distribution of therapies for patients suffering from debilitating diseases often difficult to diagnose and treat. Sanofi is composed of five global business units including: Diabetes and Cardiovascular, General Medicines and Emerging Markets, Sanofi Genzyme, Sanofi Pasteur and Merial. Sanofi Genzyme’s global PAL Awards program supports non-profit organizations that serve patients living with lysosomal storage disorders (LSDs), a group of rare, genetic disorders that can cause progressive and debilitating health problems.

ORDI (http://ordindia.org/) is a non-profit organization with the aim to empower patients with rare diseases and their families in India with access to national and international resources to improve their quality of life. A lack of awareness about rare diseases even among doctors means that a diagnosis often takes many years. The cost of diagnosis and treatment can also be prohibitively expensive. In the absence of a national government policy surrounding rare diseases, there is no push for the development of orphan drugs, the very medicines that can provide relief for patients with rare diseases. ORDI serves as a national umbrella organization for patients with rare diseases and other stakeholders. Our team consists of experts in genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy, and public service.

“By empowering families, engaging our community and connecting directly with providers for needed genetics services, we hope to shorten the diagnostic odyssey and get these children on the road to answers and hopefully, one day a cure. We are so grateful to receive the support of the John Templeton Foundation to do what we do best, support our rare disease families.” said Romina Ortiz, MHS, COO of the Rare Genomics Institute

Video:

Thanks to generous funding from the John Templeton Foundation, this program was developed and delivered for rare disease families free of charge. Partners on the project included two life sciences technology leaders: Ambry Genetics and Baylor Miraca Genetics Laboratories, and three leading pioneers in crowdfunding: CrowdRise, Indiegogo Life and YouCaring.

The rigorous 30 day program trained families on topics ranging from: preparation before launching their campaigns, reaching out to networks, leveraging social media and video content, and understanding different crowdfunding platforms The Amplify Hope study included a series of free online live webinar training events from top experts around the world, live phone assistance, and coaching from experienced experts. Of the 86 study inquiries, 11 participants submitted the required forms and launched their crowdfunding campaigns. A total of 4 of the 11 campaigns raised their goal amounts within 30 days. We found that social media played an important role in all campaigns. Specifically, a strong social media network, an active outreach process to networks, as well as engagement within the study all correlated with a higher success rate. For more results, view the full-access publication at http://www.i-jmr.org/2018/1/e3/. For resources from the Amplify Hope Study, please visit our site here: https://www.raregenomics.org/amplify-hope-resources

About The John Templeton Foundation

The John Templeton Foundation serves as a philanthropic catalyst for discoveries relating to the deepest and most perplexing questions facing humankind. We support research on subjects ranging from complexity, evolution, and emergence to creativity, forgiveness, and free will. We encourage civil, informed dialogue among scientists, philosophers, and theologians, as well as between such experts and the public at large. In all cases, our goal is the same: to spur curiosity and accelerate discovery.

In order to catalyze such discoveries, we provide grants for independent research that advances the mission of the Foundation. Our grants for public engagement help people worldwide engage the fruits of that research and explore the Big Questions.

About Rare Genomics Institute

Rare Genomics Institute (RG) was founded in 2011 to fill the health care gap for undiagnosed rare disease patients and supporting research in rare diseases. RG helps rare disease patients find a diagnosis, treatment, and pathway to a cure by individualized access, coordination and execution of genetic sequencing and research services with RG and its affiliates. RG also supports rare disease advocacy by fostering an online community of rare disease patients, and supporting rare disease research through a yearly grant competition. We hope that these efforts slowly push science and care forward to meet the needs of the patients affected by rare diseases.

Nov 7-8, 2017, D.C.: Thank you Terrapinn for supporting our attendance at your conference. We had our own COO and VP of Patient Advocacy speak about the tremendous burden of being an undiagnosed rare disease patient, and why all stakeholders need to work to meet the needs of these patients and support their diagnostic journey to achieve their diagnosis and accelerate their path to treatment! Below are a few takeaways collected by her.

Los Angeles, C.A., October 30, 2017. Rare Genomics Institute (RG) was the grateful recipient of Sanofi Genzyme’s 6th annual Patient Advocacy Leadership (PAL) Awards for 2016. For this award, RG committed to create an online training course for patient advocates in the genetics space, particularly for those working in diagnostics and serving undiagnosed rare disease patients. In this project, RG has worked with Dr. Harsha Karur Rajasimha and his team from Organization for Rare Diseases India (ORDI) to produce eLearning materials on two Lysosomal Storage Diseases: Niemann-Pick and Tay-Sachs, as well as the translation of all material to Hindi. Below is a sneak peak:

“As a virtual nonprofit, we boast the ability to work with patients, clinicians and researchers across borders to get to the cause of these rare diseases. Translating our work is a small step to give patient advocacy organizations worldwide a tool to train their advocates, so that they are best equipped to meet the needs of our undiagnosed rare disease patients.” said Romina Ortiz, MHS, COO and VP of Patient Advocacy, who is leading this operation for Rare Genomics Institute.

As of this week “Rare Gene Superheroes” enters the testing phase with RGs own leading patient advocates. Elizabeth Lotsof, Annie Wang, Qiuyin Ren and Yara Gorashi have been patient advocates at RG for over 3 years and will test the course and provide feedback. The course will be finalized and shared across RG, ORDI, as well as any organization that wishes to access the course online. The course will be free, and will be disseminated via RG’s social media channels and homepage. For anyone interested in receiving a link to the course as soon as it is ready, please fill out this short form. For more information on the Rare Gene Superheroes course, please contact romina.ortiz@raregenomics.org.

About Sanofi

Sanofi is a global healthcare leader in the discovery, development and distribution of therapies for patients suffering from debilitating diseases often difficult to diagnose and treat. Sanofi is composed of five global business units including: Diabetes and Cardiovascular, General Medicines and Emerging Markets, Sanofi Genzyme, Sanofi Pasteur and Merial. Sanofi Genzyme’s global PAL Awards program supports non-profit organizations that serve patients living with lysosomal storage disorders (LSDs), a group of rare, genetic disorders that can cause progressive and debilitating health problems.

RG is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.

ORDI (http://ordindia.org/) is a non-profit organization with the aim to empower patients with rare diseases and their families in India with access to national and international resources to improve their quality of life. A lack of awareness about rare diseases even among doctors means that a diagnosis often takes many years. The cost of diagnosis and treatment can also be prohibitively expensive. In the absence of a national government policy surrounding rare diseases, there is no push for the development of orphan drugs, the very medicines that can provide relief for patients with rare diseases. ORDI serves as a national umbrella organization for patients with rare diseases and other stakeholders. Our team consists of experts in genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy, and public service.

Washington, D.C., October, 2017. Rare Genomics Institute (RG) utilizes RareShare, an online social hub for those affected by rare medical disorders. The RareShare website, www.Rareshare.org was relaunched in February 2017 to coincide with Rare Disease Day, with the long-term goal of becoming the #1 aggregator of information about rare disorders on the Web.

RareShare aims to provide reliable information and free resources that will empower rare disease patients and families to be their own best advocate. Through RareShare, patients, families, scientists and health care professionals connect with each other in support and in hope for a cure as well as strive to alleviate the anxiety created by the unfamiliarity and isolation of rare diseases. At the time of this press release:

• RareShare membership has reached 10,170 registered users, an increase in membership of 27% since its relaunch in February.

• 5,062 of these users have been active since the Feb. 28th relaunch and of those, 58% are new and 42% are returning.

• Most users are based in the United States and English-speaking countries such as the United Kingdom, Canada and Australia. However, the website also has a strong international presence from countries such as India, Spain, Colombia and Italy.

Users within the RareShare community are engaged, trust the experts at RG as well as their partnering organizations and have explicitly expressed interest in being involved in clinical trials. Acknowledging this interest, RareShare now has an integrated clinical trial search function powered by Antidote.me. “Website enhancements such as a built-in link to the Antidote.me clinical trial tool will undoubtedly be helpful to our community members, “ says Raymond Chan, Project Manager for RareShare. “The sharing of information within our communities reassures disease patients that their condition may be rare, but they are not alone.”

In addition, rare disease patients on RareShare have the option to register with the CoRDS registry at Sanford Research (currently 3,883 participants across various organizations) and be contacted at a later date when a study is organized for their particular disease. Clinical trial registration grants current patients access to cutting edge treatments, while also aiding the approval process for life-transforming treatments for future generations.

Each RareShare disease community includes a landing page curated by scientists at RareShare and reviewed by experts within the medical and academic communities. RareShare also produces a newsletter that is distributed to all members several times a year. The “Ask the Experts” podcast features scientists, patient advocates and clinicians answering community questions and offering strategies for rare disease management - all available free through iTunes. “The relaunch of RareShare.org and the newsletter have revitalized interest in our website for both new and continuing members,” Chan said. “This, in turn, has energized our RareShare volunteers to produce new rare disease informational content such as podcasts and updated disease summaries”, he added. RareShare’s five most recent podcasts have accumulated over 1,100 downloads. Podcast transcripts will be compiled into an ebook for future reference by community members.

RareShare is equipped with a current team of 22 volunteers, who have renewed their commitment to update disease-specific information on the site and to actively engage with its members belonging to 987 different communities. RareShare volunteers continue to receive member inquiries and make referrals for support within other parts of the organization. Moving forward, RareShare will continue to reach out to outside organizations for collaborations that serve its members.

RareShare is an online social network for patients, families, healthcare professionals and others affected by rare disease and connects communities via direct messaging and forum discussions. For more information on how to support these programs, please contact raymond.chan@raregenomics.org

About Rare Genomics Institute

RG is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.

Jill Weimer PhD, a pediatrics professor at Sanford School of Medicine who studies neuropediatric diseases, including Batten, and Jimmy Lin, founder and president of the Rare Genomics Institute, presented talks last week at the Charles River World Congress on Drug Discovery and Development also sat down for a video discussion about rare disease.

Thank you Global Genes for supporting our attendance to your Rare Patient Advocacy Summit by granting us a scholarship! Below are a few highlights we got from attendee Romina Ortiz, COO and VP of Patient Advocacy.

The meeting kicked off by speakers from leading genetic sequencing laboratories, Illumina, Hudson Alpha Institute and Broad Institute. All three speakers talked about the benefit of whole exome and whole genome sequencing, and the push for insurance coverage to make this test accessible to patients. Ryan Taft, Senior Director of Scientific Research at Illumina, announced that as of November 2017, there will be a significant increase in insurance coverage for WES and that there are already 6 insurers now covering WGS!

Annette Bakker, President of the Children’s Tumor Foundation, described their work for Neurofibromatosis (NF) patients. They foster a NF-specific clinical network, a patient registry, a biobank, promote open data, have developed a tailored Pharma Kit, and started an education and awareness campaign called Patients Help Doctors (PHD). They highlight the success of cross-funding, where multiple funders work together to fund multiple programs.

Linda Newberry, Senior Vice President of Dohmen Life Science Services and Marie Rand, co-founder of PHAware, gave an amazing talk about how to get nursing care covered and the unique situation of sharing your home with a paid nurse. Marie is also working to develop the first ever FDA approved phone application that will collect patient data. She urged parents to “decide what you need and then create your team accordingly, do not wait for someone to tell you what you need.”

The Alliance for Regenerative Medicine (ARM) explained how patients with a rare disease-associated gene may produce too much or not enough of a protein, and how a therapy can be made to balance those protein levels.

Christopher Austin, the director of the National Center for Advancing Translational Sciences (NCATS) at the NIH, described science with a question and an answer, “We have a problem” and “We have an idea.” And that NCATS is in the risk mitigation business, and ¾ of its funding goes to clinical programs and trials to companies that otherwise do not have the resources for their idea. He also mentioned that NCATS recognizes that fundamental research is where science projects begin, “but when someone has a sick child you cannot give them a publication.”

Disorder: The Rare Disease Film Festival has selected thirty films to show at their seven scheduled screenings in Cambridge, MA this October. These films address life with over two dozen rare diseases. Most, but not all, are documentaries and they range in length from 1 minute to 65 minutes.

"The power of bringing together film, science, and rare disease families leads to renewed hope for all those given a one in a million diagnosis,” says Gareth Burghes, director of the film “Life & Atrophy”. “Disorder is a film festival that finds the common ground on rare diseases, empowering all those affected."

See below for a case series on the treatment of Hailey-Hailey disease (HHD) with low-dose naltrexone hydrochloride published in JAMA Dermatology. HHD is a rare, genetic dermatosis, which despite various treatment options, is difficult to control. The 3 patients examined exhibited at least an 80% reduction in extent of Hailey-Hailey disease after treatment with low-dose naltrexone. No adverse events were recorded with treatment.

Washington, D.C. June 21, 2017. The Rare Genomics (RG) Institute is delighted to announce the winners of the 2017 BeHEARD (Helping Empower and Accelerate Research Discoveries) science challenge, a global competition that offers rare disease researchers, who traditionally have difficulty attracting funding, grants of the latest life science innovations and technologies. This unique crowdsourced biotechnology competition allows companies to contribute their technology to make a difference for the rare disease community.

“This year alone, the competition received hundreds of outstanding quality submissions on 84 rare diseases, coming from 94 universities and foundations located in 20 different countries", said Danielle Fumagalli, BeHEARD Director. “Over $750,000 worth of cutting-edge technologies were awarded to study 23 rare diseases globally.”

Rare diseases affect more than 300 million worldwide, yet less than five percent of the 7,000 known rare diseases have treatments available. The winning scientists from BeHEARD 2017 will use their awards to potentially yield key medical research insights on rare diseases and have profound impact on therapeutic developments for patients.

One example is a mouse model, sponsored by Taconic Biosciences, that was awarded to Dr. Teresa Luperchio at Johns Hopkins University. This technology grant will allow her lab to test therapy options for a subtype of Kabuki syndrome, a rare disease characterized by facial deformities, growth deficiency, and intellectual disabilities. There are currently no effective treatments, and testing in the Taconic mouse model will be one of the last steps before the first-ever clinical trials for a treatment.

Winners of previous BeHEARD contests have already used the technologies to make novel discoveries. Dr. Roser Urreizti of the University of Barcelona was awarded genetic sequencing services in last year’s BeHEARD competition for her work on Opitz C Syndrome, a condition in which the skull is a triangular shape and patients suffer from mental retardation and loss of muscle tone. Using the technology, Dr. Urreizti says, “We have identified the disease-causing mutation. We have already started functional studies for every one of the genes associated with the diseases. None of them had been previously associated with Opitz C syndrome. We hope we will be able to test therapeutic approaches (molecular chaperones) in one year. We have started a collaboration to test selected FDA approved drugs on a patient's cells in a search for therapies once the functional studies confirm the relation between the mutation and the disease.”

In the 2018 BeHEARD Challenge, in addition to BeHEARD’s usual competition open to all rare disease proposals, Rare Genomics will collaborate with the INADcure Foundation to support the development of treatments for INAD (Infantile Neuroaxonal Dystrophy) by awarding $100,000 in INAD Discovery Grants specifically for research on the disease.

INAD is a storage disorder where accumulation of lipids in nerve endings causes progressive damage. The symptoms of INAD usually start to appear between the ages of 6 months and 2 years. A common pattern in young children is the steady loss of previously acquired skills, and mental and physical ability. Most children with INAD do not survive beyond the age of ten, and there are currently no effective treatments for the disease, although there has been some promising initial research. “BeHEARD and INADcure hope that by offering the Discovery Grants, we may be able to increase research on INAD. INAD has good potential for treatments, but has had difficulty attracting research and funding due to the relatively low number of sufferers,” says Ms. Fumagalli.

“We want to congratulate the winners and thank everyone who participated: our sponsors, the reviewers, and all the applicants, and we invite everyone to participate again in our upcoming BeHEARD challenge,” noted Dr. Arvin Gouw, Rare Genomics Vice President for Research & Development. “We at INADcure foundation are thrilled to work with Rare Genomics on the next BeHEARD challenge focusing on Infantile Neuroaxonal Dystrophy,” said Leena Panwala, INADcure President and Founder.

About the Rare Genomics Institute
Rare Genomics is an international 501(c) 3 non-profit that makes cutting edge research technologies of genome sequencing, physicians and scientists around the world accessible to rare disease patients. Rare Genomics helps families source, design and fund personalized research projects for diseases not otherwise studied helping rare disease patients find hope for a cure. By providing an expert network and an online crowdfunding mechanism Rare Genomics works alongside patients and their families, providing them with the necessary tools, knowledge, and connections so that they can better understand the cause of their disease.

Los Angeles, C.A. June 19, 2017. Rare Genomics Institute (RG) is the grateful recipient of RARE Bears from RARE Science Inc., a non-profit organization that helps find cures for kids with rare disease. The hand-made teddy bears are scheduled to be shipped today to 13 undiagnosed and rare disease children who have received free clinical Whole Genome Sequencing through the Rare Genomics program. This includes US-based families that reside in the states of Wisconsin, Massachusetts, Florida and California, as well as international families that live in Canada, Chile, The Netherlands, Hong Kong and Australia.

Each RARE bear is customized for each child recipient. To develop the bear design, families are asked to provide vital information about the child recipient including their age, favorite color and top hobbies.

“Now thanks to RARE Science we can give our kids a tangible gift, a bear that is unique to them, special just like they are. We just want to make them smile.”said Romina Ortiz, MHS, COO and VP of Patient Advocacy, who is leading this operation for Rare Genomics Institute.

As the children receive their gifts in the mail, we have asked the parents to send back photos with the bears. RARE Science and Rare Genomics will publish these beautiful photos and stories across social media outlets as they are shared. We hope that this will provide more awareness to the tremendous need these families have and give hope to other families just starting their journey to achieve a diagnosis and cure.

“We would LOVE a RARE bear. She's super excited. She asked how long it takes, her birthday is in June!”- Mother

The RARE Bear Program and Rare Genomics Program are patient advocacy projects aimed to support undiagnosed and rare disease patients. For more information on how to support these programs, please contact romina.ortiz@raregenomics.org

About Rare Genomics Institute

RG is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.

About RARE Science

RARE Science accelerates finding therapies for kids with rare and undiagnosed disease by empowering patient families/foundations with tools that help with community awareness and patient outreach through our RARE Bear Program. We also drive research by pooling knowledge and providing research tools for specific diseases so we can understand the biology that is responsible for the observable traits of rare disease. This helps identify therapies that may help in the more immediate future. We unite patient families, clinicians and researchers across the globe to accelerate finding cures for the most vulnerable patients, our children! Our RARE Bear Program plays an instrumental role in patient family support. In addition, the RARE Bears help us with patient outreach, education and awareness to improve early diagnosis and support our research programs to help accelerate finding cures for kids with rare disease.

Rare Genomics Institute and RareShare are proud to invite you for the upcoming podcast discussing:

Living with Adrenomyeloneuropathy (AMN) -A Clinical & Research Perspective

DATE: 06/14/2017

TIME: 10:00 AM-11:00 AM EST (7:00 AM-8:00 AM PST, 2:00 PM-3:00PM GMT)

- Are you interested in learning about recent clinical and research developments and available treatment options for AMN?- What questions would you ask about symptom management of AMN if you had the experts at hand?- Do you have any burning questions you have wanted to ask about AMN but haven’t had the chance to?

- What are the acute symptoms of Adrenomyeloneuropathy?- What can I expect for my hypertonia, peripheral neuropathy, and ataxia because I have Adrenomyeloneuropathy?- What kinds of treatments/early diagnosis are available to manage my Adrenomyeloneuropathy?

MODERATOR: Imogen Crispe, Rare Genomics Podcast Organizer

Meet our Panel of Experts

Dr. Paul Orchard, MDProfessor of Pediatrics in the Division of Blood and Marrow Transplantation (BMT) at the University of MinnesotaMedical Director of the Inherited Metabolic and Storage Disease Bone Marrow Transplantation Program

Dr Orchard attended medical school at Brown University, served his residency at the University of Wisconsin - Madison, in pediatrics, and held a fellowship at the University of Minnesota.

Dr. Orchard is interested in the use of blood and marrow transplantation (BMT) and potentially other cell therapies for inherited metabolic diseases, like Hurler syndrome and adrenoleukodystrophy. He has developed new therapies specifically for this group of patients with the goal of minimizing neurologic deterioration during the transplant process, including the use of anti-oxidants, reduced intensity transplant regimens and combinations of therapy such as transplant and enzyme replacement. This work also benefits other children undergoing transplant, particularly in regards to our commitment to minimize the side effects of transplantation.

In addition to his clinical work with patients who have inherited metabolic diseases, Dr. Orchard is also engaged in more basic research studies in regard to determining strategies to enhance the delivery of enzymes to the brain and the peripheral nervous system for patients who lack specific enzymes. In addition, he is interested in testing other types of stem cells that may improve outcomes for patients with inherited diseases, including gene therapy approaches. He also leads research and clinical care for patients with osteopetrosis, an inherited disorder leading to increased density of bone, for which BMT is a treatment option. Dr. Orchard is considered an international expert in this disorder and its treatment.

Dr. William B. Rizzo, MDProfessor, Division of Inherited Metabolic Diseases at the University of Nebraska Medical Center

Dr Rizzo attended medical school at the University of Illinois, Chicago, completed his residency at John Hopkins Hospital in Baltimore, Maryland, and was a fellow at the National Institutes of Health. He has been in practice for more than 20 years.

Dr Rizzo’s research is directed at understanding the genetic and biochemical basis of inherited metabolic diseases, with a particular emphasis on disorders of lipid metabolism, and diseases which cause a variety of symptoms involving the brain, nerves, skin and eyes. The investigations in his lab range from basic research on biochemical pathways to discovering unrecognized genetic diseases that affect metabolism in children and adults. Dr Rizzo is particularly interested in Sjogren-Larsson Syndrome and his research has identified the cause of several genetic diseases, and led to the development of new diagnostic tests and treatment approaches.

Los Angeles, C.A. June 01, 2017. Rare Genomics Institute (RG) is happy to announce that our iHope program will continue for 2017. This partnership with leading genomics company Illumina Inc. (NASDAQ: ILMN) provides free clinical whole genome sequencing to selected children affected by rare or undiagnosed diseases. Since our launch on December 6, 2016, over 30 undiagnosed children have received free sequencing.

“I cannot believe that with Illumina’s generosity, we are now able to offer this cutting-edge technology to our families. We hope that by providing access regardless of their ability to pay, we are accelerating their path to a diagnosis and hopefully one day a cure,” said Romina Ortiz, MHS, COO and VP of Patient Advocacy, who is leading this operation for Rare Genomics Institute.

The RG Patient Advocacy Team will work with all hopeful families to determine candidacy for the program. Children with strong physician support for whole genome sequencing will be considered. Joaquin is just one of the children that has been sequenced and diagnosed through this unprecedented program, and we hope there will be many more success stories to report. Here is Joaquin’s story:

Joaquin is a child from Chile who suffers from seizures, autism, strange eye movements, trouble feeding, immune system irregularities as well as generalized and progressive dystonia leaving him confined to a wheelchair. His father Ignacio, a miner in Chile, first came to RG in 2012 after already spending 3 years searching for an answer for Joaquin’s illness. Joaquin’s journey with us has encompassed whole exome sequencing and research studies in collaboration with researchers from Washington University in St. Louis and Canada, which revealed mutations in a gene that regulates the movement of fat in the brain and offered the possibility of a lysosomal lipid storage disease. This year, we were able to get Joaquin free clinical whole genome sequencing through iHope and with it, he finally has his answer. He was 19q13.11 microdeletion syndrome and dystonia type 28. Of note, he has a whole gene deletion of the KMT2B gene. We are currently exploring clinical follow up to help treat Joaquin.

“The most difficult part was not knowing what was consuming him every day, what disease was robbing his childhood. Today with a clear and certain diagnosis, we only have one path to follow, and that gives us complete peace.”- Mother

RG is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.

The non-profit Rare Genomics Institute (RG) helps provide rare disease patients with access to cutting-edge molecular biotechnology and analytical expertise with the potential to uncover new directions for research, treatment, and support. As volunteer analysts for RG, we analyzed the exome sequence data of patients with as-yet undiagnosed diseases with a suspected underlying genetic cause.

Los Angeles, C.A. February 28, 2017. Rare Genomics Institute (RG) is happy to share the story of the VanBrocklins, a family from Wisconsin that received free clinical whole genome sequencing through RG as part of its iHope program in collaboration with Illumina, Inc.

“It is our hope that more support is given for undiagnosed children, so that they may receive the treatments and care that they have desperately needed throughout the years” says Romina Ortiz, Chief Operating Officer of Rare Genomics Institute.

Through this test, both children who had experienced developmental and chronic joint symptoms received answers in their diagnostic journey. The family first turned to Rare Genomics in August of 2016 and were accepted in the iHope program by its launch in December. Their genetics team at the Medical College of Wisconsin is now able to continue to support this family, guiding them to further clinical care tailored to their genetic results. Both children are able to receive further treatments and therapies that they otherwise would not have received without the results or diagnosis. To view their story, visit the Rare Genomics Youtube channel.

"Now we know, we have solid evidence. It’s not just based off different tests, we have something that is directly related to him and it’s helped him dramatically. Now that we know what is with our daughter, which routes we need to go. Thank you, I can’t say it enough.”

-Jonathan VanBrocklin, father

Please visit the iHope site at http://www.raregenomics.org/ihope/ to learn more about this opportunity. There are limited number of tests available and eligibility will be determined on a case-by-case basis.

About Rare Genomics Institute

RG is a non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, such as Johns Hopkins, Medical College of Wisconsin and Stanford, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable community funding to support whatever type of research is necessary to get closer to rare disease therapeutics. For more information about Rare Genomics Institute, visit http://www.raregenomics.org and follow @RareGenomics

About Illumina, Inc.

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit www.illumina.com and follow @illumina.

Alice Cheng and Zhi Xie of the Rare Genomics Institute have published a open-access paper, "Challenges in orphan drug development and regulatory policy" in the Orphanet Journal of Rare Diseases.

Cheng and Xie's paper compares orphan drug development and regulatory policy in China and the US. They find that due to political, economic, and cultural differences, China cannot simply base its policies on the American model. China's public healthcare system has the opportunity to take advantage of available data to create aggregated databases for diseases and genomic information, assisting epidemiology research.

The authors advocate for the five suggestions proposed by the National People's Congress and Chinese People's Political Consultative Conference of 2009:

Los Angeles, C.A. January 31, 2017. Rare Genomics Institute (RG) and the Organization for Rare Diseases India (ORDI) announced today that they are one of the recipients of Sanofi Genzyme’s 6th annual Patient Advocacy Leadership (PAL) Awards for 2016. RG and ORDI have won financial support for the development and dissemination of specialized Rare Disease online training modules.

The project is directed by RG COO and VP of Patient Advocacy, Romina Ortiz.

“The goal of the project is to develop an e-learning educational resource to train patient advocate associates, patients, caregivers, physicians, and researchers to strengthen and optimize rare disease patient advocacy for pre-sequencing and post-sequencing support functions,” said Ms. Romina Ortiz, MHS. “The content is highly specialized and includes genetics, heredity, next generation sequencing, with a special focus on rare disease, professional patient interaction, and privacy.”

On this project, RG partnered with Dr. Harsha Karur Rajasimha and his team from ORDI, who will pioneer the first international distribution of these training materials, specifically contributing to the translation of these materials into Hindi and disseminating them amongst their rare disease network and direct content development for Lysosomal Storage Disorders. ORDI aims to connect with a subset of the roughly 490 million Hindi speaking population that consumes health information only in Hindi.

Web-based training materials are anticipated to be ready by Fall 2017, and will be disseminated directly to patient advocates working with thousands of disease-specific organizations. Materials will also be publically available for patients and caregivers through the RG and ORDI websites. If you are interested in knowing more about genome sequencing for rare diseases, please email: contact@raregenomics.org.

About Sanofi Sanofi is a global healthcare leader in the discovery, development and distribution of therapies for patients suffering from debilitating diseases often difficult to diagnose and treat. Sanofi is composed of five global business units including: Diabetes and Cardiovascular, General Medicines and Emerging Markets, Sanofi Genzyme, Sanofi Pasteur and Merial. Sanofi Genzyme’s global PAL Awards program supports non-profit organizations that serve patients living with lysosomal storage disorders (LSDs), a group of rare, genetic disorders that can cause progressive and debilitating health problems.

About Rare Genomics InstituteRG is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.

About Organization For Rare Diseases IndiaORDI (http://ordindia.org/) is a non-profit organization with the aim to empower patients with rare diseases and their families in India with access to national and international resources to improve their quality of life. A lack of awareness about rare diseases even among doctors means that a diagnosis often takes many years. The cost of diagnosis and treatment can also be prohibitively expensive. In the absence of a national government policy surrounding rare diseases, there is no push for the development of orphan drugs, the very medicines that can provide relief for patients with rare diseases. ORDI serves as a national umbrella organization for patients with rare diseases and other stakeholders. Our team consists of experts in genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy, and public service.

Sanofi Genzyme has announced the Rare Genomics Institute as one of winners of the 2016 Patient Advocacy Leadership (PAL) Awards. The PAL Awards support projects by non-profit organizations that serve patients living with lysosomal storage disorders (LSDs), a group of rare diseases.

The Rare Genomics Institute, working together with the Organization for Rare Disease India, submitted a winning proposal for creating training modules and other educational materials on genomic sequencing for patients, caregivers, patient advocates, and physicians. Because the genes for many LSDs have been identified, genomic sequencing is a useful tool in for diagnosis. However, a lack of education presents a barrier to this resource. The Rare Genomics Institute and the Organization for Rare Disease India hope to mitigate this barrier through improved education.

The Rare Genomics Task Force (RGTF) division of Rare Genomics Institute aims to provide scientific information and support for patients with rare diseases. These efforts include but are not limited to conducting research reviews, writing reports for patients, identifying renowned experts who can help with projects, and connecting experts with rare disease patients. RGTF recently started a free and publicly accessible platform that is currently running through email communication.

In the US, around 20 million people suffer from rare diseases. Unfortunately, we are only in the very early stages of diagnosing and treating the majority of these rare diseases. As such, patients are left with limited information regarding their condition. As patients who have rare diseases have increasingly made email inquiries,, the RGTF initiated a better and faster way of communication with patients about their diseases with an online platform through which they can directly submit questions. Our analysts aim to answer their inquiries quickly, usually within 10 business days.

RGTF provides an innovative and convenient way of helping patients with rare diseases. Compared to conventional email communication, this application platform (http://www.raregenomics.org/rgtf) will expedite the spread of knowledge as well as better satisfy the needs of patients. With trained scientific analysts and established connections with experts in diverse areas of rare diseases, the RGTF provides advanced scientific support to help patients.

RG is a non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, such as Harvard, Yale, Johns Hopkins, and Stanford, RG helps design personalized research projects for diseases so rare that no dedicated organization exists. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable community funding to support any type of research that leads to rare disease therapeutics.

Disclaimer: RG connects patients to research institutions and assists with logistics and fundraising, but we cannot provide medical advice. Please consult your physician if you have any medical questions, or call 911 in an emergency situation.